Fight for Sight research results in a genetic diagnostic tool for children’s eye condition

Fight for Sight-funded research has resulted in a tool that can successfully diagnose an eye condition in children by carrying out genetic diagnosis on saliva samples.

Dr Mervyn Thomas and Professor Irene Gottlob from the University of Leicester have developed the world’s first diagnostic genetic panel for nystagmus. The development of a next-generation sequencing (NGS) panel aims to improve the genetic diagnosis of infantile nystagmus.

The technique involves developing ‘sequencing panels’ that contain a set of genes or gene regions that are known to be associated with the disease. These can then be used to identify specific mutations in DNA extracted from saliva samples.

In results published in June 2017, the Leicester team were able to show that the panel had high sensitivity, with a successful genetic diagnosis in 80% of cases. This new approach could remove the need for electrodiagnostic testing, an invasive diagnostic test which can be unreliable and difficult to use with children.

Researchers believe genetic information from the panel could also lead to personalised genetic diagnosis and management of the condition and enable genetic counselling to provide support, information and advice for those living with the condition.

Dr Neil Ebenezer, Director of Policy, Research and Innovation at Fight for Sight, said: “This genetic test will simplify and accelerate the diagnostic process in infantile nystagmus and will ensure that children could now get the right support to treat their condition at an early stage.”

Dr Mervyn Thomas from the University of Leicester, said: “The genetic panel for nystagmus is the culmination of collaborative work between the team at Leicester and Roche. We anticipate that this test will be incorporated into future guidelines as a frontline diagnostic tool and establish opportunities for targeted treatments.”

Fern Lulham from Hastings was born with Nystagmus. She said: “Growing up with nystagmus made me stand out in the crowd and feel like one in a million. Being a grown-up with nystagmus has, at times, given me a million insecurities all rolled into one - my appearance, job prospects, relationship possibilities and overall quality of life. However, I always have hope for my future. New research doesn’t just change eyes, it can restore confidence and totally transform lives.”

Infantile nystagmus is a disorder characterised by the involuntary side to side movement of the eyes. The condition can be present at birth or it can develop during infancy.

It is difficult to identify the underlying cause of the condition due to the variants of genes involved in retinal and brain development. To develop the new diagnostic tool the researchers first identified 336 genes associated with infantile nystagmus from literature and Online Mendelian Inheritance in Man (OMIM).